I98T (p.Ile98Thr) variant of MCCC1 (Q96RQ3)
I98T (p.Ile98Thr) in MCCC1 (Q96RQ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
I98T (p.Ile98Thr) variant details
- p.Ile98Thr
- Ensembl rs2108553710
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- REVEL 0.91
- CADD 24.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the HGDP:MOZABITE population (allele frequency 0.02)
- Structural context available